SLC45A1
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SLC45A1 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | SLC45A1, DNB5, solute carrier family 45 member 1, IDDNPF, PAST-A | ||||||||||||||||||||||||
External IDs | OMIM: 605763 MGI: 2653235 HomoloGene: 44908 GeneCards: SLC45A1 | ||||||||||||||||||||||||
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Species | Human | Mouse | |||||||||||||||||||||||
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Location (UCSC) | Chr 1: 8.32 – 8.34 Mb | Chr 4: 150.71 – 150.74 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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SLC45A1 is a member of the SLC45 family of solute carriers. Analysis of the protein function in a recombinant yeast expression assay show that it can: (i) transport a disaccharide, such as glucose and sucrose (ii) perform secondary active transport in a proton-dependent manner.[5]
It is associated with sugar transport in the brain, and rare mutations in the gene are associated with intellectual disability and epilepsy.[6] analogous to the effect of mutation of the cerebral glucose transporter GLUT1(SLC2A1).
References[edit]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000162426 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039838 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Bartölke R, Heinisch JJ, Wieczorek H, Vitavska O (December 2014). "Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae". The Biochemical Journal. 464 (2): 193–201. doi:10.1042/BJ20140572. PMID 25164149.
- ^ Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, et al. (May 2017). "Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy". American Journal of Human Genetics. 100 (5): 824–830. doi:10.1016/j.ajhg.2017.03.009. PMC 5420346. PMID 28434495.